Peer-reviewed article
Beckwith-Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomy: a case report.
Hara S, Sato T, Shimokawa O, Pooh R, Watanabe Y et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a medical case report describing a single male infant with a rare genetic condition (Beckwith-Wiedemann syndrome caused by genome-wide paternal uniparental heterodisomy). The report documents the clinical features, genetic analysis, and molecular mechanisms of this previously undescribed genetic abnormality. While the patient is a child, the document is a specialized clinical case study focused on genetic pathology rather than child well-being, health outcomes, or interventions.
Key points
Limitations
This is a single case report of a rare genetic condition with no comparative analysis, intervention evaluation, or assessment of child well-being outcomes. It cannot inform policy or programming for child health or development at any scale.
Abstract
Backgrounds Patients with genome-wide paternal uniparental disomy (GWpUPD) usually exhibit clinical features of Beckwith-Wiedemann syndrome (BWS) and a 46,XX karyotype, with all chromosomes showing isodisomy. To date, male patients with GWpUPD and a complete 46,XY karyotype, specifically involving heterodisomy, have not been described. Results We report a male infant exhibiting classical BWS clinical features. DNA methylation analyses showed paternal-specific methylation across multiple imprinted loci, suggesting GWpUPD. Genetic analysis of autosomes and sex chromosomes indicated two distinct paternal genomes in peripheral blood leukocytes, whereas a normal biparental genome was detected in other tissues under chimeric conditions. These findings indicated that the patient had genome-wide paternal uniparental heterodisomy (GWpUPhD). The SNP array revealed the presence of one copy of the X chromosome and one copy of the Y chromosome, the patient is a chimera composed of 46,XY biparental cells (with maternal X) and 46,XY GWpUPhD cells (with paternal X). Conclusions This is the first report of a male patient with a GWpUPhD chimera. We propose a potential mechanism of GWpUPhD formation. Our findings expand the molecular spectrum of GWpUPD and provide valuable insights into its pathogenesis in chimeric conditions. Furthermore, the potential for clinical manifestations unique to 46,XY heterodisomy warrants careful long-term follow-up.